A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5472089



Internal ID8449492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2536695..2537725hg38UCSC Ensembl
Outerchr11:2536658..2537775hg38UCSC Ensembl
Innerchr11:2557925..2558955hg19UCSC Ensembl
Outerchr11:2557888..2559005hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664758
Supporting Variants
SamplesNA19210
Known GenesKCNQ1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5472089
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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